Phenylketonuria Medical Definition

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Phenylketonuria (PKU) - Symptoms and causes - Mayo …

https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKUis caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. Without t… See more

Phenylketonuria: MedlinePlus Genetics

https://medlineplus.gov/genetics/condition/phenylketonuria/

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building …

Phenylketonuria (PKU): Symptoms, Causes & Treatment …

https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria

Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. Phenylalanine is found in the body as part …

Phenylketonuria - About the Disease - Genetic and Rare …

https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria/

Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is one of the building blocks (amino acids) of proteins. …

Phenylketonuria: Causes, Symptoms, and Diagnosis

https://www.healthline.com/health/phenylketonuria

Phenylalanine hydroxylase is an enzyme your body uses to convert phenylalanine into tyrosine, which your body needs to create neurotransmitters such …

Phenylketonuria Definition & Meaning - Merriam-Webster

https://www.merriam-webster.com/dictionary/phenylketonuria

: an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its metabolites in the blood causing usually severe …

Phenylketonuria (PKU) - Diagnosis and treatment - Mayo …

https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308

Phenylketonuria is generally diagnosed through newborn screening. Once your child is diagnosed with PKU, you'll likely be referred to a medical center or specialty …

Phenylketonuria: MedlinePlus Medical Encyclopedia

https://medlineplus.gov/ency/article/001166.htm

Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Causes PKU is inherited, which …

Phenylketonuria | definition of phenylketonuria by …

https://medical-dictionary.thefreedictionary.com/phenylketonuria

Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine …

About Phenylketonuria - Genome.gov

https://www.genome.gov/Genetic-Disorders/Phenylketonuria

Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine …

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